Associated Papers
Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.
Uehara DT et al.
Jbmr Plus, 2023
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
Salazar-Silva R et al.
Human Molecular Genetics, 2021
33326993 (PubMed )
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